Canonical Allele Identifier: CA400963589

Gene: USH1G

Linked Data

• gnomAD v4: 17-74920094-G-T
• MyVariant Identifiers: chr17:g.72916189G>T (hg19) ; chr17:g.74920094G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920094G>T , CM000679.2:g.74920094G>T	GRCh38
NC_000017.10:g.72916189G>T , CM000679.1:g.72916189G>T	GRCh37
NC_000017.9:g.70427784G>T	NCBI36
NG_007882.1:g.8163C>A
NG_033062.1:g.820G>T
NG_007882.2:g.8170C>A
NG_033062.2:g.820G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.742C>A MANE Select	ENSP00000480279.1:p.Gln248Lys
ENST00000579243.1:c.*341C>A	ENSP00000462568.1:n.*341C>A
ENST00000614341.4:c.742C>A	ENSP00000480279.1:p.Gln248Lys
NM_001282489.2:c.433C>A	NP_001269418.1:p.Gln145Lys
NM_173477.4:c.742C>A	NP_775748.2:p.Gln248Lys
XM_011524296.1:c.433C>A	XP_011522598.1:p.Gln145Lys
XM_011524296.2:c.433C>A	XP_011522598.1:p.Gln145Lys
NM_173477.5:c.742C>A MANE Select	NP_775748.2:p.Gln248Lys
NM_001282489.3:c.433C>A	NP_001269418.1:p.Gln145Lys